Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
NM_016010.3
p.G9S
c.25G>A
NM_016010.3
p.S279F
c.836C>T
NM_016010.3
p.E6Splc
c.16+1G>T
NM_016010.3
p.E6Splc
c.16+59C>A
NM_016010.3
p.C19_T25del0
c.55_75del21
NM_016010.3
p.A56T
c.166G>A
NM_016010.3
p.A94V
c.281C>T
NM_016010.3
p.L107I
c.319C>A
NM_016010.3
p.P111P
c.333T>A
NM_016010.3
p.L222L
c.666A>G
NM_016010.3
p.S243S
c.729C>T
NM_016010.3
p.P252S
c.754C>T